Submissions for variant NM_000256.3(MYBPC3):c.3573G>A (p.Ser1191=)

gnomAD frequency: 0.00004  dbSNP: rs371488508

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001089321	SCV000623599	likely benign	Hypertrophic cardiomyopathy	2025-01-13	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000612605	SCV000743673	likely benign	Hypertrophic cardiomyopathy 4	2016-12-08	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000612605	SCV000745027	likely benign	Hypertrophic cardiomyopathy 4	2015-09-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001178160	SCV001342535	likely benign	Cardiomyopathy	2019-03-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000538979	SCV001842546	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002456037	SCV002615627	likely benign	Cardiovascular phenotype	2019-12-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health	RCV001089321	SCV004836584	likely benign	Hypertrophic cardiomyopathy	2024-02-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV005239137	SCV005884827	likely benign	not specified	2024-12-06	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000612605	SCV000733027	likely benign	Hypertrophic cardiomyopathy 4		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000538979	SCV001956298	likely benign	not provided		no assertion criteria provided	clinical testing